Variant report

Variant	rs1242504
Chromosome Location	chr17:17367215-17367216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11653380	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1242497	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1569043	0.80[AMR][1000 genomes]
rs4924892	0.86[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap]
rs73978916	0.82[AMR][1000 genomes]
rs8072971	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8082459	0.95[LWK][hapmap];0.90[YRI][hapmap]
rs906405	0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065710	chr17:17328111-17391443	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv827909	chr17:17358945-17394331	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17354800-17368000	Weak transcription	Fetal Thymus	thymus
2	chr17:17363600-17371000	Weak transcription	Pancreas	Pancrea
3	chr17:17363600-17380000	Weak transcription	Right Atrium	heart
4	chr17:17363800-17367400	Weak transcription	Brain Angular Gyrus	brain
5	chr17:17363800-17380200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:17365200-17367600	Enhancers	Fetal Intestine Large	intestine
7	chr17:17366000-17370800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:17366000-17371000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr17:17366600-17367600	Enhancers	Brain Substantia Nigra	brain
10	chr17:17366600-17367800	Enhancers	Brain Cingulate Gyrus	brain
11	chr17:17366800-17367800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr17:17367000-17370000	Weak transcription	Brain Anterior Caudate	brain
13	chr17:17367000-17370800	Weak transcription	Fetal Intestine Small	intestine
14	chr17:17367200-17368000	Bivalent Enhancer	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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